Living with Dyschondrosteosis-nephritis syndrome
A rare condition with short height from shortened arms and legs, a wrist bone difference, and a hereditary kidney condition.
Understanding Dyschondrosteosis-nephritis syndrome
People with this condition are short because parts of the arms and legs are shortened. They have a wrist difference called Madelung deformity. They also have hereditary nephritis, a kidney condition that runs in families.
Signs & symptoms
GARD doesn't list specific symptoms for this condition separately, but the summary describes these features:
- Short height
- Shortened middle parts of the arms and legs
- Madelung deformity (wrist bone difference)
- Hereditary nephritis (kidney condition)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD doesn't describe a cause for this condition yet.
Also known as: dyschondrosteosis and nephritis; mesomelic shortening and hereditary nephritis
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Dyschondrosteosis-nephritis syndrome.
Explore research for Dyschondrosteosis-nephritis syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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